Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Laboratory Medicine, |
RCV000626482 | SCV000606832 | pathogenic | X-linked sideroblastic anemia 1 | 2017-08-07 | no assertion criteria provided | clinical testing | We report a 12-month-old boy, who presented with progressive pallor and severe anemia since birth. His peripheral blood smear revealed a microcytic hypochromic anemia with anisopoikilocytosis. Bone marrow studies revealed marked erythroid hyperplasia with over 40% ringed sideroblasts. |